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Diseases » Metabolic Acidosis » Glossary
 

Glossary for Metabolic Acidosis

  • 3-Hydroxyacyl-CoA Dehydrogenase II Deficiency: A rare genetic disorder involving the deficiency of an enzyme (hydroxyacyl-coa dehydrogenase). The severity of the symptoms is highly variable with some cases resulting in death during the first decade while others suffer psychomotor and regression. Symptoms tend to be more severe in males who suffer progressive neurodegeneration whereas females tend to suffer mainly from developmental delay.
  • 3-methylglutaconic aciduria, type 1: A recessively inherited metabolic disorder characterized by methylglutaconic acid in the urine.
  • 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency: A very rare metabolic disorder where a deficiency of a particular enzyme results in the urinary excretion of a chemical called hawkinsin. Symptoms start once the infant is weaned off breast milk.
  • Acetazolamide -- Teratogenic Agent: Experimental studies on mice, rats and rabbits indicate that the use of Acetazolamide during pregnancy may cause various harmful effects on the fetus. The likelihood and severity of symptoms may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at. The effect on human fetuses has not been conclusively determined.
  • Acidemia, methylmalonic: An inborn error of metabolism where amino acids in the body aren't metabolized properly resulting in high levels of the acid throughout the body.
  • Acidemia, propionic: An inherited genetic disorder where the body is incapable of processing some proteins and fats resulting in the accumulation of certain substances in the body which causes the symptoms of the condition. The condition can be life threatening.
  • Acute Renal Failure: Syndrome characterised by rapid decline in kidney function with accumulation of waste products in the blood, occurring over a period of days to weeks
  • Acute liver failure: Rapid deterioration of the liver that is caused by severe damage to the liver. Acute liver failure may be caused by such things as paracetamol overdose, excess alcohol consumption, viral hepatitis, Reye syndrome or acute fatty liver of pregnancy.
  • Adverse reaction to chemical -- 1,2-Dibromoethane: 1,2-Dibromoethane is a chemical used in gasoline, soil fumigants, fire extinguishers, flue gases and mechanical gauge fluid. Excessive exposure to this chemical can cause serious symptoms. The severity of symptoms varies amongst patients.
  • Alsing syndrome: A rare syndrome characterized mainly by kidney problems, skeletal abnormalities and a hole in the coloboma of the eye.
  • Amitriptyline toxicity: The toxic reaction of the body to the substance, possibly via allergic reaction or overdose.
  • Amlodipine toxicity: The toxic reaction of the body to the substance, possibly via allergic reaction or overdose.
  • Amoxapine toxicity: The toxic reaction of the body to the substance, possibly via allergic reaction or overdose.
  • Analgesic nephropathy syndrome: Kidney damage caused by excessive use of pain-killing drugs. Aspirin and phenacetin mixtures are the most common causes.
  • Aortic arch interruption: A rare genetic birth defect where a portion of the aortic arch is missing or discontinued which severely impairs the flow of oxygenated blood to the lower body.
  • Apparent Mineralocorticoid Excess, type 2: A form of inherited high blood pressure that starts during early childhood. The condition is caused by a genetic defect which results in an inborn error of metabolism of peripheral cortisol. Type 2 causes similar symptoms to type 1 but the urinary steroid levels are different.
  • Apparent mineralocorticoid excess: A form of inherited high blood pressure that starts during early childhood. The condition results from a genetic defect which causes impaired metabolism of cortisol.
  • Aristolochic Acid poisoning: Aristolochic acid is derived from a forest herb from the Aristocholochia family. It is often used in herbal preparations such as Aristolochia Fang Ch, Bragantia and Asarum. It is usually used in herbal preparations to promote weight loss. The substance is believed to cause kidney failure and urinary tract cancer.
  • Arrhythmias: Irregularity in the heart's beating rhythm.
  • Asphyxia neonatorum: A condition where a newborn infant fails to start breathing on its own in the minutes following birth.
  • Beta ketothiolase deficiency: A rare inherited disease characterized by the bodies inability to metabolise certain amino acids and products of the breakdown of fat. Harmful levels of organic acids build up in the body and cause ketoacidic attacks.
  • Bicarbonate deficit: A condition caused by excessive organic or inorganic acids in the body. The excess may be due to abnormally high acid production such as occurs during fever and starvation or may occur as a result of excessive acid intake, acid retention or loss of bases.
  • Biotinidase deficiency: A metabolic disorder where the body lacks the enzyme biotinidase needed to process the vitamin called biotin (vitamin H) into carboxylase enzymes.
  • Biotinidase deficiency, late onset: A metabolic disorder where the body lacks the enzyme biotinidase needed to process the vitamin called biotin (vitamin H) into carboxylase enzymes. The severity of symptoms may vary depending on the degree of deficiency. Severe cases can result in metabolic acidosis which can lead to death if treatment isn't given.
  • Boichis syndrome: A rare syndrome involving nephronophthisis (progressive destruction of kidney tissue) from birth which leads to kidney failure and liver fibrosis.
  • Chemical poisoning -- 4-Aminopyridine: 4-Aminopyridine is a pesticide used mainly to control bird pests. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Aldicarb: Aldicarb is a carbamate pesticide used mainly as an insecticide, nematicide and acaricide. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure. The chemical may be absorbed through the skin.
  • Chemical poisoning -- Ammonium Bifluoride: Ammonium Bifluoride is a chemical used wheel cleaners, herbicides and in the manufacture of magnesium. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Ammonium Chloride: Ammonium Chloride is a chemical used as a medical agent for conditions such as metabolic acidosis, in deodorizer cleaners and also used in industry in fertilizers, electroplating, galvanizing, soldering and in deodorizer cleaners. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Borates: Borate is a chemical used in a wide variety of products - herbicides, paints, insecticides, rodenticides and various personal products such as skin creams, toothpastes and powders. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Bromophos: Bromophos is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure. The chemical may be absorbed through the skin.
  • Chemical poisoning -- Carbaryl: Carbaryl is a carbamate pesticide used mainly as an insecticide and acaricide. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure. The chemical may be absorbed through the skin.
  • Chemical poisoning -- Chloralose: Chloralose is a chemical used mainly in poisons for rodents and crows . Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Chlorfenvinphos: Chlorfenvinphos is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure. The chemical may be absorbed through the skin.
  • Chemical poisoning -- Chlorpyrifos: Chlorpyrifos is a chemical used mainly in as an insecticide. Ingestion and other exposures to the chemical can cause various symptoms. The chemical may be absorbed readily through the skin. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Coumaphos: Coumaphos is used as a pesticide. Ingestion and other exposures to the chemical can cause various symptoms. The chemical may be absorbed readily through the skin. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Demeton-S-methyl: Demeton-S-methyl is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure. The chemical may be absorbed through the skin.
  • Chemical poisoning -- Diazinon: Diazinon is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure. The chemical may be absorbed through the skin.
  • Chemical poisoning -- Dichlorvos: Dichlorvos is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure. The chemical may be absorbed through the skin.
  • Chemical poisoning -- Dicrotophos: Dicrotophos is a toxic insecticide. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Dinitrophenol: Dinitrophenol is a chemical that has various applications: herbicide, pesticide, fungicide, acaricide, manufacture of dyes and wood preservative. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Dioxathion: Dioxathion is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure. The chemical may be absorbed through the skin.
  • Chemical poisoning -- Disulfoton: Disulfoton is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure. The chemical may be absorbed through the skin.
  • Chemical poisoning -- Ethion: Ethion is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure. The chemical may be absorbed through the skin.
  • Chemical poisoning -- Ethylene Glycol: Ethylene Glycol is a chemical used mainly in antifreeze, coolants and as a solvent. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure. Symptoms tend to occur in three phases: the first 12 hours involves inebriation, seizuresand brain swelling; the second and third day involves deterioration of lung and heart function and the third stage involves kidney damage and possibly failure. Death can occur during any of the stages.
  • Chemical poisoning -- Fensulfothion: Fensulfothion is a chemical pesticide used as an insecticide and nematicide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure. The chemical may be absorbed through the skin.
  • Chemical poisoning -- Fenthion: Fenthion is a chemical pesticide used as an insecticide and avicide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure. The chemical may be absorbed through the skin.
  • Chemical poisoning -- Glycol Ether: Glycol Ether is a chemical used mainly in nail polish removers, products to treat leather, anti-icing agents and as an industrial solvent. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Glyphosate: Glyphosate is a chemical used mainly in herbicides. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Imazapyr: Imazapyr is a chemical used mainly in herbicides. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Malathion: Malathion is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure. The chemical may be absorbed through the skin.
  • Chemical poisoning -- Metaldehyde: Metaldehyde is a chemical used mainly as a molluscicide, in heating fuel and in fire lighters. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Methanol: Methanol is a chemical used mainly in fuel, paint removers, solvent, antifreeze and in the production process of many other products. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Methidathion: Methidathion is a chemical insecticide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure. The chemical may be absorbed through the skin.
  • Chemical poisoning -- Methiocarb: Methiocarb is a toxic pesticide. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Methomyl: Methomyl is a carbamate pesticide used mainly as an insecticide. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure. The chemical may be absorbed through the skin.
  • Chemical poisoning -- Parathion: Parathion is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure. The chemical may be absorbed through the skin.
  • Chemical poisoning -- Phenol: Phenol is a chemical used mainly in the production of fertilizer, explosives, rubber, paint, paint remover, perfumes, asbestos products, wood preservatives, resins, textiles, pharmaceuticals and drugs. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Phosdrin: Phosdrin is a toxic pesticide. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Polyethylene Glycol -- Low Molecular Weight: Low molecular weight polyethylene glycol is a chemical used mainly in hair products, cosmetics, topical medications and in Lava lamps. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Profenofos: Profenofos is a toxic pesticide. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Propoxur: Propoxur is a carbamate pesticide used mainly as an insecticide and acaricide. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure. The chemical may be absorbed through the skin.
  • Chemical poisoning -- Pyrimidifen: Pyrimidifen is a chemical used mainly as an insecticide and acaricide. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Terbufos: Terbufos is a chemical pesticide used as an insecticide and nematicide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure. The chemical may be absorbed through the skin.
  • Chemical poisoning -- Tetraethyl Pyrophosphate: Tetraethyl Pyrophosphate is a toxic pesticide. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Toluene: Toluene is a chemical used mainly in pesticides, degreasers, glues and pain removers. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Triethylene Glycol: Triethylene Glycol is a chemical used mainly in brake fluid. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Tungsten: Tungsten is an element used mainly in light bulb filaments, X-ray tubes, electrodes, superalloys, heating elements and various other high temperature uses. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Cholestyramine -- Teratogenic Agent: There is evidence to indicate that exposure to Cholestyramine (cholesterol-lowering drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Chronic interstitial nephritis:
  • Clomipramine Toxicity: The toxic reaction of the body to the substance, possibly via allergic reaction or overdose.
  • Cocaine -- Teratogenic Agent: There is evidence to indicate that exposure to Cocaine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Complex 5 mitochondrial respiratory chain deficiency: A rare genetic defect where an enzyme deficiency (ATP synthetase) disrupts cellular processes. Any of a variety of the components of the enzyme may be missing or defective and hence the clinical presentation and severity may vary. The deficiency may result in a variety of symptoms and conditions of variable severity such as Leber's myopathy, Leigh syndrome, cardiomyopathy and NARP (neuropathy, ataxia, retinitis pigmentosa).
  • Congenital chloride diarrhea: A rare birth disorder where the intestines don't absorb electrolytes properly (especially chloride) which leads to electrolyte imbalance which is potentially fatal if untreated. Symptoms often start while the infant is still inside the womb.
  • Congenital diaphragmatic hernia: A rare condition where an infant is born with an opening in the diaphragm which allows some of the abdominal organs to move into the chest cavity and cause problems.
  • Congenital lactase deficiency: A congenital metabolic disorder where a deficiency of an enzyme called lactase impairs the body's ability to digest milk and other products that contain lactose. Symptoms tend to occur soon after consuming such products. The severity of symptoms depends on the degree of lactase deficiency.
  • Cystinosis: A rare biochemical disorder involving the accumulation of a chemical called cystine in various parts of the body which can cause harmful effects.
  • Deal-Barratt-Dillon syndrome: A very rare syndrome characterized mainly by scaly skin, jaundice, diarrhea and Fanconi syndrome (bone marrow fails to make sufficient new blood cells).
  • Decreased bicarbonate: A decrease in the amount of bicarbonate in the blood
  • Defect in synthesis of adenosylcobalamin: A rare genetic disorder characterized by the impaired ability to make a chemical called adenosylcobalamin. Adenosylcobalamin is a derivative of vitamin B12. The defect results a biochemical abnormality which affects the body's normal biochemical functioning.
  • Desipramine toxicity: The toxic reaction of the body to the substance, possibly via allergic reaction or overdose.
  • Developmental Lactase Deficiency: This form of lactase deficiency occurs in premature infants. Lactase enzyme activity usually develops late in pregnancy so a preterm infant will not yet have developed this enzyme function. The greater the degree of prematurity, the greater the reduction in lactase activity.
  • Diabetes: Failing or reduced ability of the body to handle sugars.
  • Diabetic Ketoacidosis: Life-threatening complication of high blood sugars and diabetes.
  • Diarrhea: Loose or watery stool.
  • Diarrhea 2, with Microvillous Atrophy: A rare congenital condition characterized by diarrhea resulting form a defect in small intestine.
  • Doxepin toxicity: The toxic reaction of the body to the substance, possibly via allergic reaction or overdose.
  • Duodenal atresia: A rare birth defect where a portion of the small intestine is absent or completely closed off and the digestive products cannot pass through. It is usually associated with other birth defects.
  • Duodenal atresia tetralogy of Fallot: A rare birth defect characterized by a heart defect and an intestinal malformation where the duodenum is absent or closed off which prevents digested material passing through.
  • Electron Transfer Flavoprotein, deficiency of: A metabolic disorder involving an enzyme deficiency - electron transfer flavoprotein ubiquinone oxydoreductase. The severity of symptoms depends on the level of deficiency. The infant onset form is the most severe.
  • Ethanol -- Teratogenic Agent: There is evidence to indicate that exposure to Ethanol during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Ethylene glycol poisoning: Excessive ingestion of ethylene glycol. Ethylene glycol can be found in antifreeze.
  • Familial Lactase Deficiency: A congenital metabolic disorder where normal amounts of lactase are produced but the lactase is defective and unable to digest milk and other products that contain lactose. Symptoms tend to occur soon after consuming such products.
  • Fanconi-Albertini-Zellweger syndrome: A rare syndrome characterized mainly by congenital heart defect, brain abnormalities, unusual face and metabolic acidosis.
  • Felodipine toxicity: The toxic reaction of the body to the substance, possibly via allergic reaction or overdose.
  • Functioning pancreatic endocrine tumor: Tumors that develop in the pancreas and cause excessive secretion of one or more pancreatic hormones such as insulin, somatostatin, glucagons, gastrin, ACTH (corticosteroids) and vasoactive intestinal peptidase.
  • Funnel Web spider poisoning: The funnel web spider is a poisonous spider found mainly in Australia and America. The venom is toxic to the nervous system. There are two phases of poisoning - the first phase starts soon after envenomation and may result in death in severe cases. The second phase occurs one or two hours after envenomation where patients may recover somewhat but symptoms such as apnea and low blood pressure may develop.
  • Glucocorticoid resistance: A rare condition where all or parts of the body are unable to respond to glucocorticoids. Symptoms depend on the level or resistance.
  • Glutaric Aciduria, neonatal form of type II A: A more serious neonatal form of glutaricaciduria where there is excessive blood and urine levels of glutaric acid and congenital anomalies may be present.
  • Glutaric aciduria 2: A metabolic disorder involving an enzyme deficiency - electron transfer flavoprotein ubiquinone oxydoreductase. The severity of symptoms depends on the level of deficiency. The infant onset form is the most severe and often results in death. Severe cases usually develop during childhood or infancy and usually involve metabolic acidosis and its associated symptoms. Milder cases may simply present with muscle weakness initially that develops in adulthood. Some cases may involve additional symptoms such as heart, liver and kidney problems, facial anomalies and genital abnormalities.
  • Glutaricaciduria 2B: A milder, later-onset form of glutaricaciduria where there is excessive blood and urine levels of glutaric acid due to the body's impaired ability to metabolize protein and fat into energy.
  • Glutaricaciduria I: A rare inherited enzyme deficiency disorder where deficiency of the glutaryl-CoA dehydrogenase enzyme results in dystonia, dyskinesia and sometimes mental retardation.
  • Glutathione Synthetase Deficiency: An inborn error of metabolism where insufficient glutathione is produced. Glutathione is an antioxidant which helps destroy unstable molecules that can cause damage to cells and helps develop certain cell components. The condition is due to insufficient glutathione synthetase enzyme. The condition may range from mild, resulting in excessive destruction of red blood cells, to severe which includes neurological symptoms.
  • Glutathione synthetase deficiency, intermediate: An inborn error of metabolism where insufficient glutathione is produced. Glutathione is an antioxidant which helps destroy unstable molecules that can cause damage to cells and helps develop certain cell components. The condition is due to insufficient glutathione synthetase enzyme. The condition may range from mild, resulting in excessive destruction of red blood cells, to severe which includes neurological symptoms.
  • Glutathione synthetase deficiency, severe: An inborn error of metabolism where insufficient glutathione is produced. Glutathione is an antioxidant which helps destroy unstable molecules that can cause damage to cells and helps develop certain cell components. The condition is due to insufficient glutathione synthetase enzyme. The condition may range from mild, resulting in excessive destruction of red blood cells, to severe which includes neurological symptoms.
  • HMG-CoA lyase deficiency: A rare inherited metabolic disorder where deficiency of a particular enzyme impairs the processing of amino acids in food to create energy and causes various symptoms. Stresses on the body such as infection, fasting and heavy exercise can trigger an episode.
  • Herbal Agent adverse reaction -- Clove: Clove can be used as a herbal agent that can be used topically for tooth pain or as a local anesthetic in dentistry. The herbal agent can cause an adverse reaction or even anaphylaxis in some people.
  • Herbal Agent adverse reaction -- Margosa oil: Margosa oil can be used as a herbal agent to treat parasitic infestations. The herbal agent contains various chemicals which can cause an adverse reaction in some people.
  • Herbal Agent overdose -- Cleistanthus Collinus: Cleistanthus collinus can be used as a herbal agent which is very toxic and has been used to commit suicide or murder. The herbal agent contains toxic chemicals such as dyphyllin, collinusin and glycosides.
  • Hyperglycerolemia: A genetic condition where an enzyme deficiency (glycerol kinase) results in an accumulation of glycerol in the body as well as it's excretion through the urine.
  • Hyperkalaemia: Increased concentration of potassium in the blood.
  • Hyperphosphataemia: An increased level of phosphate in the circulation above that which is considered normal
  • Hyperventilation: Excessively rapid breathing causing blood gas imbalances
  • Hypoaldosteronism: Reduced aldosterone levels. One of the functions of aldosterone is to regulate salt levels in the body.
  • Hypoplastic Left Heart Syndrome: A rare condition where an infant is born with an underdeveloped left side of the heart which prevents the heart from pumping oxygenated blood efficiently to various parts of the body.
  • Imipramine toxicity: The toxic reaction of the body to the substance, possibly via allergic reaction or overdose.
  • Iron poisoning: Excessive ingestion of iron - often occurs when children ingest adult iron tablets.
  • Isoniazid toxicity: The toxic reaction of the body to the substance, possibly via allergic reaction or overdose.
  • Isradipine toxicity: The toxic reaction of the body to the substance, possibly via allergic reaction or overdose.
  • Juvenile nephronophthisis: A rare inherited kidney disorder characterized by formation of cysts inside the kidney, kidney fibrosis and tubular atrophy which leads to progressive kidney failure.
  • Kidney failure: Total failure of the kidneys to filter waste
  • Lactic Acidosis: Acidic blood (acidosis) due to buildup of lactate
  • Lactic Acidosis, Fatal Infantile: The excessive accumulation of lactic acid in the blood which leads to metabolic acidosis.
  • Lactic acidosis congenital infantile: A rare congenital condition where an infant has high levels of lactic acid in the blood causing metabolic acidosis.
  • Leigh syndrome: A rare, progressive, neurological disorder characterized by the degeneration of the brain and impaired function of various body organs. The condition is caused by a systemic deficiency of the cytochrome C oxidase enzyme.
  • Leigh syndrome, French Canadian type: A rare, progressive, inherited metabolic disorder where a deficiency of the enzyme cytochrome C oxidase affects skeletal muscles, connective tissue, brain and liver.
  • Leigh syndrome, Saguenay-Lac-St. Jean type: A rare, progressive, inherited metabolic disorder where a deficiency of the enzyme cytochrome C oxidase affects skeletal muscles, connective tissue, brain and liver.
  • Leucinosis: A term used to describe high levels of leucine in the body. It is associated with a metabolic disorder called maple syrup urine disease where there is a deficiency of an enzyme needed to break down leucine so it builds up within the body.
  • Lightwood-Albright syndrome: A rare syndrome caused by kidney dysfunction.
  • Lipoid congenital adrenal hyperplasia: A rare form of congenital adrenal hyperplasia where the early phase of adrenal cortisol production is defective which causes mineralocorticoid deficiency. Male pseudohermaphroditism is the main characteristic of this disorder.
  • Lowe Syndrome: An X linked condition characterized by vitamin D deficiency and causing an oculocerebrorenal syndrome
  • Lowe oculocerebrorenal syndrome: A rare inherited metabolic disorder characterized primarily by eye and bone abnormalities, mental retardation and kidney problems.
  • Lutz-Richner-Landolt syndrome: A rare disorder involving kidney and biliary abnormalities.
  • Malignant hyperthermia: A very rare genetic disorder where sufferers suffer episodes of adverse reactions when certain anesthetics or muscle relaxants are administered.
  • Malignant hyperthermia susceptibility type 1: A rare, potential lethal disorder that is triggered by general anesthetic or certain muscle relaxant drugs. On exposure to the drugs, muscle metabolism is severely disrupted and the body is unable to control its temperature which can lead to death without treatment. The chromosomal defect for type 1 is located at 19q13.1.
  • Malignant hyperthermia susceptibility type 2: A rare, potential lethal disorder that is triggered by general anesthetic or certain muscle relaxant drugs. On exposure to the drugs, muscle metabolism is severely disrupted and the body is unable to control its temperature which can lead to death without treatment. The chromosomal defect for type 2 is located at 17q11.2-q24.
  • Malignant hyperthermia susceptibility type 3: A rare, potential lethal disorder that is triggered by general anesthetic or certain muscle relaxant drugs. On exposure to the drugs, muscle metabolism is severely disrupted and the body is unable to control its temperature which can lead to death without treatment. The chromosomal defect for type 3 is located at 7q21-q22.
  • Malignant hyperthermia susceptibility type 4: A rare, potential lethal disorder that is triggered by general anesthetic or certain muscle relaxant drugs. On exposure to the drugs, muscle metabolism is severely disrupted and the body is unable to control its temperature which can lead to death without treatment. The chromosomal defect for type 4 is located at 3q13.1.
  • Malignant hyperthermia susceptibility type 5: A rare, potential lethal disorder that is triggered by general anesthetic or certain muscle relaxant drugs. On exposure to the drugs, muscle metabolism is severely disrupted and the body is unable to control its temperature which can lead to death without treatment. The chromosomal defect for type 5 is located at 1q32.
  • Malignant hyperthermia susceptibility type 6: A rare, potential lethal disorder that is triggered by general anesthetic or certain muscle relaxant drugs. On exposure to the drugs, muscle metabolism is severely disrupted and the body is unable to control its temperature which can lead to death without treatment. The chromosomal defect for type 6 is located at 5p.
  • Malonic aciduria: A very rare genetic disorder where a deficiency of a particular enzyme (malonyl-CoA decarboxylase) impairs the body's ability to convert fatty acids into energy that can be used by muscles such as the heart muscle. Fatty acids also accumulate in the body as they are not metabolized.
  • Maternally Inherited Leigh Syndrome: A rare condition where Leigh syndrome is inherited from the mother. Leigh syndrome is characterized by degeneration of the brain and impaired function of various organs.
  • Medium and long chan 3-hydroxyacyl-coenzyme A dehydrogenase deficiency: A metabolic disorder characterized by the deficiency of an enzyme (3-hydroxyacyl-coenzyme A dehydrogenase) which is needed to metabolise long and medum-chain fatty acids. The severity of symptoms may vary depending on the degree of the deficiency.
  • Medium-Chain Acyl-CoA Dehydrogenase Deficiency: A rare disorder where the body lacks enzymes needed to convert some fats (medium-chain fatty acids) into energy and hence these fats build up in the body and cause damage.
  • Medullary cystic kidney disease 1: A rare disorder characterized mainly by the development of kidney cysts and affects kidney function during adulthood. The disorder is caused by a genetic defect (chromosome 1q21).
  • Medullary cystic kidney disease 2: A rare disorder characterized mainly by the development of kidney cysts and affects kidney function during adulthood. The disorder is caused by a genetic defect (chromosome 16p12.3). Type 2 tends to have an earlier onset of end stage kidney failure.
  • Medullary cystic kidney disease, autosomal recessive: A genetic kidney disease which causes kidney failure in children, usually during adolescence.
  • Metabolic disorders: Disorders that affect the metabolic system in human
  • Metformin -- Teratogenic Agent: There is evidence to indicate that exposure to Metformin during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Methanol poisoning: Excessive ingestion of methanol. Methanol can be found in fuel, solvents and paint products.
  • Methylmalonic acidemia:
  • Methylmalonic acidemia, vitamin B12 responsive: A rare genetic disorder characterized by the impaired ability to make a chemical called adenosylcobalamin. Adenosylcobalamin is a derivative of vitamin B12. The defect results a biochemical abnormality which affects the body's normal biochemical functioning. The condition responds to the administration of vitamin B12.
  • Methylmalonic aciduria -- homocystinuria: A rare group of disorders characterized by methylmalonic aciduria and homocystinuria resulting from abnormal metabolism of vitamin B12 by the liver. There are various subtypes of the condition with varying ages of onset and severity of symptoms.
  • Methylmalonicaciduria with homocystinuria, cobalamin F: An inherited organic acid disorder where an enzyme deficiency (cbl F) impairs the body's ability to break down certain proteins (methionine, threonine, isoleucine and valine) consumed in the diet. This results in a buildup of methylmalonic acid and homocystine which results in harmful affects.
  • Microcephaly, Amish type: A very rare lethal condition characterized by an abnormally small head and a metabolic abnormality.
  • Molybdenum, cofactor deficiency, inherited: A rare metabolic disorder characterized by excessive levels of xanthine in the urine. It is caused by a deficiency of the enzymes xanthine dehydrogenase (as in xanthinuria type I) and enzyme aldehyde oxidase (as in xanthinuria type II) as well as sulfite oxidase which are needed to metabolize xanthine. The metabolic abnormality causes severe xanthinuria with neurological symptoms. The condition may be an inherited or acquired (due to certain drug therapies) deficiency.
  • Necrotizing enterocolitis: A rare disease that is tends to occur in premature infants and involves inflammation and destruction of gastrointestinal tissue. It usually occurs within weeks of birth - often after the start of milk feeding. The condition can be extremely serious and even fatal.
  • Nephronophthisis 2: A genetic kidney disorder which causes kidney failure during childhood. Other problems such as underdeveloped lungs may also be associated with the condition. Type 2 is caused by a defect in the inversin gene.
  • Nephronophthisis 3: A genetic kidney disorder which causes kidney failure during adolescence. Other problems such as underdeveloped lungs may also be associated with the condition. Type 3 is caused by a defect in the NPHP3 gene.
  • Nephronophthisis 4: A genetic kidney disorder which causes kidney failure during adolescence. Other problems such as underdeveloped lungs may also be associated with the condition. Type 4 is caused by a defect in the NPHP4 gene.
  • Nephronophthisis 7: A genetic kidney disorder which causes kidney failure during adolescence. Other problems such as underdeveloped lungs may also be associated with the condition. Type 7 is caused by a defect in the GLIS2 gene.
  • Neuroleptic Malignant Syndrome: A severe, potentially fatal reaction to antipsychotic drugs.
  • Nifedipine toxicity: The toxic reaction of the body to the substance, possibly via allergic reaction or overdose.
  • Nimodipine toxicity: The toxic reaction of the body to the substance, possibly via allergic reaction or overdose.
  • Nortriptyline toxicity: The toxic reaction of the body to the substance, possibly via allergic reaction or overdose.
  • Osteopetrosis -- renal tubular acidosis: A rare disorder where increased bone density is caused by carbonic anhydrase II deficiency.
  • Osteopetrosis with renal tubular acidosis: A rare disorder where increased bone density is caused by carbonic anhydrase II deficiency.
  • Paracetamol -- Teratogenic Agent: There is evidence to indicate that exposure to Paracetamol during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Phosphoglucomutase deficiency: An enzyme (phosphoglucomutase) deficiency which causes metabolic problems.
  • Propionic Acidemia: A condition which is characterized by the excess of propionic acid and glycine in the blood resulting in acidaemia
  • Protriptyline toxicity: The toxic reaction of the body to the substance, possibly via allergic reaction or overdose.
  • Pseudoaldosteronism: A rare genetic disorder involving early onset high blood pressure, reduced aldosterone secretion, hypokalemia and metabolic acidosis. The disorder originates from kidney dysfunction rather than impaired aldosterone secretion.
  • Pseudohypoaldosteronism: A group of disorders involving an electrolyte imbalance due to the kidney's inability to respond to aldosterone. The actual level of aldosterone may range from high to low.
  • Pseudohypoaldosteronism type II: A rare condition characterized by electrolyte disorders caused by the kidney's inability to respond to aldosterone. Type II is differentiated from Type I in that sodium wasting doesn't occur.
  • Pyridoxamine 5-prime-phosphate oxidase deficiency: A metabolic disorder involving a deficiency of an enzyme called 5-prime-phosphate oxidase. Symptoms start soon after birth and involves seizures and other anomalies.
  • Renal Tubular Acidosis: A rare disorder where the kidneys secrete too much hydrogen and don't reabsorb enough bicarbonate which can result in symptoms such as excessive blood acidity and loss of potassium.
  • Respiratory distress syndrome, infant: A respiratory disorder caused by deficiency of pulmonary surfactant in premature infants which prevents normal lung functioning.
  • Reye's Syndrome: A syndrome in children recovering from infection and associated with aspirin.
  • SCHAD deficiency: A rare genetic disorder involving the deficiency of an enzyme (hydroxyacyl-coa dehydrogenase). The severity of the symptoms is highly variable with some cases resulting in death during the first decade while others suffer psychomotor and regression. Symptoms tend to be more severe in males who suffer progressive neurodegeneration whereas females tend to suffer mainly from developmental delay.
  • Secondary Lactase Deficiency: This form of lactase deficiency results from some sort of damage to the intestines either due to a disease or surgery. Some possible causes include untreated celiac disease, long-term use of antibiotics, giardiasis, carcinoid syndrome, HIV enteropathy, gastrectomy and intestinal resection. Lactase enzyme activity usually develops late in pregnancy so a preterm infant will not yet have developed this enzyme function. The greater the degree of prematurity, the greater the reduction in lactase activity.
  • Senior-Loken Syndrome: A rare inherited disorder characterized by kidney dysfunction and progressive eye disease.
  • Senior-Loken syndrome 1: A rare inherited disorder characterized by kidney dysfunction and progressive eye disease. Type 1 is caused by a chromosomal defect on chromosome 2q13. End stage kidney disease usually occurs early in the second decade.
  • Senior-Loken syndrome 3: A rare inherited disorder characterized by kidney dysfunction and progressive eye disease. Type 3 is caused by a chromosomal defect on chromosome 3q22. This form generally has an early onset.
  • Senior-Loken syndrome 4: A rare inherited disorder characterized by kidney dysfunction and progressive eye disease. Type 4 is caused by a chromosomal defect on chromosome 1p36.
  • Senior-Loken syndrome 5: A rare inherited disorder characterized by kidney dysfunction and progressive eye disease. Type 5 is caused by a chromosomal defect on chromosome 3q21.1. This form generally has a later onset.
  • Senior-Loken syndrome 6: A rare inherited disorder characterized by kidney dysfunction and progressive eye disease. Type 6 is caused by a chromosomal defect on chromosome 12q21.3. End stage kidney disease usually occurs early in the second decade and vision impairment occurs by 3 years of age.
  • Short Bowel Syndrome: Disorder of shortened bowel usually from bowel surgery.
  • Short-Chain Acyl-CoA Dehydrogenase Deficiency: A rare disorder where the body lacks enzymes needed to convert some fats (short-chain fatty acids) into energy.
  • Slow heartbeat: Excessively slow heart beat (slow pulse) called "bradycardia"
  • Succinyl-CoA acetoacetate transferase deficiency: A very rare metabolic disorder involving an enzyme (Succinyl-CoA acetoacetate transferase) deficiency which prevents ketones being metabolized. Physical stress on the body (infection, exhaustion) can trigger an episode of ketosis, vomiting and rapid breathing.
  • Systemic disorders: Any condition that occurs in a system of the body
  • Systemic monochloroacetate poisoning: Monochloracetate acid is a dangerous chemical which can cause systemic poisoning even if only skin exposure occurs. Exposure to the chemical can be life-threatening with serious symptoms starting within hours of the exposure.
  • The Congenital Lactic Acidoses: A condition which is characterized by congenital lactic acidoses
  • The Methylmalonic Acidemias: A condition which is characterized by an excess of methylmalonic acid in the blood
  • Toxic mushrooms -- Renal toxic (orelline): Some mushrooms (Amanita smithiana) contain chemicals (allenic norleucine, chlorocrotyglycine) which can cause kidney damage.
  • Trimipramine toxicity: The toxic reaction of the body to the substance, possibly via allergic reaction or overdose.
  • Type 10 17b-hydroxysteroid dehydrogenase deficiency: A rare genetic disorder involving the deficiency of an enzyme (hydroxyacyl-coa dehydrogenase). The severity of the symptoms is highly variable with some cases resulting in death during the first decade while others suffer psychomotor and regression. Symptoms tend to be more severe in males who suffer progressive neurodegeneration whereas females tend to suffer mainly from developmental delay.
  • Vipoma: A rare disorder caused by an increase in secretion of vasoactive intestinal peptide by the pancreas. The syndrome is often caused by an islet-cell tumor (except for beta cells) in the pancreas.
  • White Chameleon poisoning: The white chameleon is a type of thistle found mainly in dry areas of the Mediterranean. The rhizomes contains chemicals which can cause poisoning symptoms if eaten. The plant is often mistaken for a wild artichoke. The root extract is sometimes used in alternative medicine and excessive doses can also result in poisoning.

 

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